CLDN5 (claudin 5)

Gene

• Entrez ID: 7122
• Gene name: Claudin 5
• Gene symbol: CLDN5
• Synonyms: AWAL, BEC1, CPETRL1, TMDVCF, TMVCF
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellula

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021935	hsa-miR-128-3p	Microarray	17612493
MIRT755417	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, RNA-seq	38743384
MIRT895492	hsa-miR-2355-5p	CLIP-seq
MIRT895493	hsa-miR-4283	CLIP-seq
MIRT895494	hsa-miR-4508	CLIP-seq
MIRT895495	hsa-miR-4706	CLIP-seq
MIRT895496	hsa-miR-4749-5p	CLIP-seq
MIRT895497	hsa-miR-744	CLIP-seq
MIRT2201485	hsa-miR-1207-5p	CLIP-seq
MIRT2201486	hsa-miR-4722-5p	CLIP-seq
MIRT2201487	hsa-miR-4736	CLIP-seq
MIRT2201488	hsa-miR-4763-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003151	Process	Outflow tract morphogenesis	TAS	9192844
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	25323998, 32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	23137377, 25978380
GO:0005911	Component	Cell-cell junction	IDA	18065521, 21168935, 23288152, 23626836
GO:0005911	Component	Cell-cell junction	IMP	25753039
GO:0005923	Component	Bicellular tight junction	IBA	21873635
GO:0005923	Component	Bicellular tight junction	IDA	9892664, 25816133
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007043	Process	Cell-cell junction assembly	IMP	23288152
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	21168935
GO:0007612	Process	Learning	TAS	9192844
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	28961379
GO:0010628	Process	Positive regulation of gene expression	IMP	25323998
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IMP	25323998
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0016021	Component	Integral component of membrane	NAS	9892664
GO:0016021	Component	Integral component of membrane	TAS	9192844
GO:0016327	Component	Apicolateral plasma membrane	IDA	9892664
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0016525	Process	Negative regulation of angiogenesis	IMP	25323998
GO:0030054	Component	Cell junction	TAS
GO:0030336	Process	Negative regulation of cell migration	IMP	25323998, 28961379
GO:0030864	Component	Cortical actin cytoskeleton	IDA	25816133
GO:0032092	Process	Positive regulation of protein binding	IMP	25323998
GO:0035633	Process	Maintenance of blood-brain barrier	IMP	28961379
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042802	Function	Identical protein binding	ISS
GO:0043116	Process	Negative regulation of vascular permeability	IMP	28961379
GO:0060021	Process	Roof of mouth development	TAS	9192844
GO:0060325	Process	Face morphogenesis	TAS	9192844
GO:0070160	Component	Tight junction	IDA	30734065
GO:0070830	Process	Bicellular tight junction assembly	IBA	21873635
GO:0120192	Process	Tight junction assembly	ISS
GO:1903142	Process	Positive regulation of establishment of endothelial barrier	IMP	23288152
GO:1903348	Process	Positive regulation of bicellular tight junction assembly	IMP	25323998
GO:1990963	Process	Establishment of blood-retinal barrier	IMP	25323998
GO:2000810	Process	Regulation of bicellular tight junction assembly	TAS

Other IDs

• MIM: 602101
• HGNC: 2047
• e!Ensembl: ENSG00000184113

Protein

• UniProt ID: O00501
• Protein name: Claudin-5 (Transmembrane protein deleted in VCFS) (TMDVCF)
• Protein function: Plays a major role in tight junction-specific obliteration of the intercellular space.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00822	PMP22_Claudin	4 → 181	PMP-22/EMP/MP20/Claudin family	Family

• Sequence:

  MGSAALEILGLVLCLVGWGGLILACGLPMWQVTAFLDHNIVTAQTTWKGLWMSCVVQSTG
  HMQCKVYDSVLALSTEVQAARALTVSAVLLAFVALFVTLAGAQCTTCVAPGPAKARVALT
  GGVLYLFCGLLALVPLCWFANIVVREFYDPSVPVSQKYELGAALYIGWAATALLMVGGCL
  LCCGAWVCTGRPDLSFPVKYSAPRRPTATGDYDKKNYV

• Sequence length: 218

Pathways

KEGG:

Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C

Reactome:

RUNX1 regulates expression of components of tight junctions

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	16181776, 15363474